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dc.contributor.authorGutowska-Ding, Maria Weronika
dc.contributor.authorDeans, Zandra C.
dc.contributor.authorRoos, Christophe
dc.contributor.authorMatilainen, Jukka
dc.contributor.authorKhawaja, Farrah
dc.contributor.authorBrügger, Kim
dc.contributor.authorAhn, Jo Wook
dc.contributor.authorBoustred, Christopher
dc.contributor.authorPatton, Simon J.
dc.description.abstractNext-generation sequencing (NGS) is replacing other molecular techniques to become the de facto gene diagnostics approach, transforming the speed of diagnosis for patients and expanding opportunities for precision medicine. Consequently, for accredited laboratories as well as those seeking accreditation, both objective measures of quality and external review of laboratory processes are required. External quality assessment (EQA), or Proficiency Testing (PT), can assess a laboratory’s service through an independent external agency, the EQA provider. The analysis of a growing number of genes and whole exome and genomes is now routine; therefore, an EQA must be delivered to enable all testing laboratories to participate. In this paper, we describe the development of a unique platform and gene target independent EQA scheme for NGS, designed to scale from current to future requirements of clinical diagnostic laboratories testing for germline and somatic variants. The EQA results from three annual rounds indicate that clinical diagnostic laboratories are providing an increasingly high-quality NGS service and variant calling abilities are improving. From an EQA provider perspective, challenges remain regarding delivery and performance criteria, as well as in analysing similar NGS approaches between cohorts with meaningful metrics, sample sourcing and data formats.en_US
dc.publisherSpringer Natureen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.titleOne byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variantsen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.rights.holderCopyright The Author(s) 2019en_US
dc.source.journalEuropean Journal of Human Geneticsen_US
dc.identifier.citationEuropean Journal of Human Genetics. 2020, 28, 202-212.en_US

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Navngivelse 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse 4.0 Internasjonal